Our life, our experience, our history, about my daughter with a rare chromosome disorder. She is missing a small portion of her 8th chromosome, which is called a deletion. She also has a small part of XP added to that. Her karotype or diagnosis is deletion 8p23.3 with extra xp22.2 to the terminal deletion (a new chromosome test summer 2011 changed her karotype to deletion 8p23.2 with extra xp 22.12, essentially meaning more missing chromosome 8 and more added xp). #herrarelife
Friday, August 14, 2009
sweetie would say
Saturday, August 8, 2009
Thankful
Mostly my mood was prompted because my husband watched a 20/20 segment about a girl with Autism who they thought was severely disabled and unable to communicate. On day at the age of 11 she spontaneously started typing on the family laptop. The family had no idea their daughter had so much to say and she really was able to tell about her disorder in her own words. I'll post a link to her site soon.
So like I occasionally do, I googled chromosome disorder blogspot and family stories. I scrolled down the list and clicked on Noah's story. http://noahgrantjohn.blogspot.com/
I feel so touched and moved to have read part of Noah's story. He was born September 2005, the same year as Sadie. The first picture on his site was a picture of where he was buried last week. He wasn't yet 4, but he shares a common bond with Sadie...they were both born with RARE Chromosome Disorders. I feel so thankful that Sadie is here on this Earth and with us. Tonight I grieve for little Noah and his family. May they somehow find peace and comfort. My heart goes out to them.
Sent from my Verizon Wireless BlackBerry
Friday, August 7, 2009
Sunday, August 2, 2009
Pretty Girl
Sent from my Verizon Wireless BlackBerry
Friday, July 31, 2009
Debatable Postings
So here goes...Sadie had a speech evaluation on Monday, which I consider to have been a waste of time. While the therapist giving the evaluation truly meant well, I would like to think that when I tell you she used a standardized test you will understand that that means showing a notebook to Sadie with a choice of 4 pictures. She said please point to..., but when I told her that Sadie won't do that or understand that she said well I'll ask her to circle it instead. When she asked Sadie to circle/pat the skunk. Sadie didn't respond to pointing/patting/or kissing the pictures. She simply wanted to hold the therapist's pen. I asked her what level she started on...she responded 4 year old....AFTER, I had already told her that Sadie's receptive language is 18-20 months and expressive language is 6-9 months old. AMAZING. Needless to say, She went to the beginning of the test and got NO results. I continued to explain that we want to focus on basic communication/sign language/picture choices with photographs/concrete objects.
Who wears the Pants?
Photo was taken a few weeks ago at Surf Camp for disabled and underprivileged people
Saturday, July 25, 2009
The Skinny
Unfortunately, she's gotten that skinny look to her little body again and she can't bear to lose an ounce. She must have grown talls because I don't believe she's lost any weight.
I started giving her a small dose every other afternoon, which seems to be pretty effective right now. She's been eating better and I haven't had to work so hard to feed her.
Sent from my Verizon Wireless BlackBerry
Time is a Thief
I don't remember the first time I heard the sentiment, "time is a thief." Recently it is heavy on my mind. I haven't post...
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and the flu panic begins... http://www.cloroxclassrooms.com/downloads/teacher_brochure.pdf
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Sadie has been having spasm type clinch arm and mouth type movements that last about 2 seconds randomly starting in June. For the past mont...
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Today I was feeling the need to read other stories about other children with chromosome disorders. I googled blogspot to see if I could find...